SCN2A-Related Disorders

Edited by Alfred L. George, Jr. , Megan Abbott , Kevin J. Bender , Andreas Brunklaus , Scott Demarest , Shawn Egan , Isabel Haviland , Jennifer A. Kearney , Leah Schust Myers , Heather E. Olson , Stephan J. Sanders , Christina SanInocencio , Joseph S

ISBN 10: 1009530372 / ISBN 13: 9781009530378

Published by Cambridge University Press, 2025

About this Item

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Bibliographic Details

• Title: SCN2A-Related Disorders
• Publisher: Cambridge University Press
• Publication Date: 2025
• Language: English
• ISBN 10: 1009530372
• ISBN 13: 9781009530378
• Binding: Paperback
• Edition: International Edition
• Condition: New

About this title

Synopsis

SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders. SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy. This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants. Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders. This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core.